Canonical Allele Identifier: CA2067672675
Gene: HNF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120988859T= , CM000674.2:g.120988859T= GRCh38
NC_000012.11:g.121426662T= , CM000674.1:g.121426662T= GRCh37
NC_000012.10:g.119911045T= NCBI36
NG_011731.2:g.15114T= , LRG_522:g.15114T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.353T= ENSP00000453965.2:p.Met118=
ENST00000257555.11:c.353T= MANE Select ENSP00000257555.5:p.Met118=
ENST00000257555.10:c.353T= ENSP00000257555.4:p.Met118=
ENST00000400024.6:c.353T= ENSP00000476181.1:p.Met118=
ENST00000402929.5:n.488T=
ENST00000535955.5:n.43-8632T=
ENST00000538626.2:n.191-8632T=
ENST00000538646.5:c.353T= ENSP00000443964.1:p.Met118=
ENST00000540108.1:c.327-4661T= ENSP00000445445.1:n.327-4661T=
ENST00000541395.5:c.353T= ENSP00000443112.1:p.Met118=
ENST00000541924.5:c.353T= ENSP00000440361.1:p.Met118=
ENST00000543427.5:c.353T= ENSP00000439721.2:p.Met118=
ENST00000544413.2:c.353T= ENSP00000438804.1:p.Met118=
ENST00000544574.5:c.73-7758T= ENSP00000438565.1:n.73-7758T=
ENST00000560968.5:c.496T=
ENST00000615446.4:c.-257-7403T= ENSP00000483994.1:n.-257-7403T=
ENST00000617366.4:c.353T= ENSP00000481967.1:p.Met118=
NM_000545.5:c.353T= , LRG_522t1:c.353T= NP_000536.5:p.Met118=
NM_000545.6:c.353T= NP_000536.5:p.Met118=
NM_001306179.1:c.353T= NP_001293108.1:p.Met118=
XM_005253931.2:c.353T= XP_005253988.1:p.Met118=
XM_024449168.1:c.353T= XP_024304936.1:p.Met118=
NM_000545.8:c.353T= MANE Select NP_000536.6:p.Met118=
NM_001306179.2:c.353T= NP_001293108.2:p.Met118=